Phenotypes Associated with This Genotype

Genotype
MGI:6438116

• Allelic Composition: Shank3^tm3.2Cmpl/Shank3^tm3.2Cmpl
• Genetic Background: B6.129S6(Cg)-Shank3^tm3.2Cmpl

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

behavior/neurological phenotype ( J:289884 )

N • mice exhibit normal locomotor activity and locomotor habituation, normal ambulatory movement and fine movement, and unchanged motor coordination and learning on the accelerating rotarod

N • mice show no differences in anxiety-related behavior in the open field, dark/light, and elevated plus maze tasks, show normal marble burying and nest building and show normal acoustic startle reflex and prepulse inhibition

N • mice show no differences in both cued and contextual fear conditioning

abnormal object recognition memory ( J:289884 )

• in the novel object recognition test, mice show no preference for novel object B over control object C compared to wild-type mice which show a preference for the new object B

impaired spatial learning ( J:289884 )

• during a spatial test, mice show no preference for object A in the new location compared to wild-type mice which show a preference for object A

• however, mice show normal long-term spatial memory in the Morris water maze

increased thigmotaxis ( J:289884 )

• mice show an increase in % thigmotaxis across training days in the Morris water maze

increased grooming behavior ( J:289884 )

• mice spend almost twice as much time grooming in a novel home-cage than wild-type mice; this is due increased time grooming per bout and not due to increased number of grooming bouts

abnormal social investigation ( J:289884 )

• mice interact less times and spend less time physically interacting with their sex and genotype-matched counterpart in the open field than wild-type mice

• however, mice show normal social recognition in the social interaction with juvenile test of social memory, and normal social interaction with a caged adult

excessive vocalization ( J:289884 )

• pups temporarily isolated from their mothers emit more ultrasonic vocalization calls than wild-type mice at P4 and P6

nervous system

impaired synaptic plasticity ( J:289884 )

• mice exhibit altered hippocampal synaptic plasticity

abnormal synaptic transmission ( J:289884 )

• NMDA/AMPA ratio is decreased at glutamatergic synapses onto medium spiny neurons indicating that striatal excitatory transmission is impaired

• however, no difference in mEPSC amplitude or frequency is seen in the striatum and mice do not show altered synaptic transmission at hippocampal synapses

reduced long-term potentiation ( J:289884 )

• mice show decreased hippocampal long-term potentiation

• however, mGluR-dependent long-term depression is not altered

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:289884
Phelan-McDermid syndrome		DOID:0080354	OMIM:606232	J:289884